Zobrazeno 1 - 10
of 10
pro vyhledávání: '"David H. Adams"'
Autor:
Marianne T. Sweetser, Márcia Waddington-Cruz, Josep M. Campistol, Hartmut Schmidt, John L. Berk, Jing Jing Wang, Jared Gollob, David H. Adams, Teresa Coelho, Juan Buades, Michael Polydefkis, Jihong Chen, Ole B. Suhr, Isabel Conceição
Publikováno v:
Orphanet Journal of Rare Diseases
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Background: Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of treatment in patients with hered
Publikováno v:
Orphanet Journal of Rare Diseases
A 28 year old male with a background of abdominal tuberculosis living in Tekhand slum district of Delhi presented with two and half year history of recurrent loose stools following tingling sensation in the upper and lower limbs, as well as weakness
Autor:
Hervé Chanut, Colombe Lemoine, David H. Adams, Marie Théaudin, Cécile Cauquil, Agnès Morier, Alyssa De Sousa
Publikováno v:
Orphanet Journal of Rare Diseases
The rehabilitation is part of a drug free therapy management of peripheral polyneuropathy. The Transthyretin Familial Amyloid Polyneuropathy this illness entails deficiencies that do impact on the day to day physical comfort and everyday life of pati
Autor:
Antoine Rousseau, Marc Labetoulle, Marie Théaudin, Cécile Cauquil, David H. Adams, Emmanuel Barreau, Zoia Mincheva, julia meney
Publikováno v:
Orphanet Journal of Rare Diseases
Background Ocular manifestations of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) mainly include keratoconjunctivitis sicca, secondary glaucoma and vitreous deposits. Because liver transplantation (LT) and symptomatic treatments gre
Publikováno v:
Orphanet Journal of Rare Diseases
Results The study included 27 patients, 18 males and 9 females, 29-77 years of age. Baseline data are presented for 14 patients with a Polyneuropathy Disability (PND) Score I and 13 patients with a PND Score II or greater. Characterized by FAP Stage,
Autor:
David H. Adams, Anne Mantel, Guillemette Beaudonnet, Marie Théaudin, Celie Labeyrie, Cécile Cauquil, Clovis Adam
Publikováno v:
Orphanet Journal of Rare Diseases
TTR-FAP is progressive, disabling, irreversible and life-threatening neuropathy due to a point mutation of TTR gene with autosomal dominant transmission. France is a non endemic European country. To study the impact of labeling French reference cente
Autor:
David H. Adams
Publikováno v:
Orphanet Journal of Rare Diseases
TTR-FAP have been described more than 60 years ago by Corino Andrade in Porto (Brain, 1952). This peculiar disease affected many families with an autosomal dominant transmission, in the third decade of life, characterized by a progressive peripheral
Autor:
Marie Théaudin, Mireille Clément, Vincent Algalarrondo, Nadia Kouchi, Marie Kubezyk, Amandine Darras, Cécile Cauquil, Céline Labeyrie, Teresa Antonini, Agnès Morier, Sophie Aycaguer, Géraldine Nonnez, David H. Adams, Colombe Lemoine, Nathalie Coste
Publikováno v:
Orphanet Journal of Rare Diseases
Background The French National Reference centre for Transthyretinrelated amyloidosis (ATTR) was accredited in 2005. One of its 10 lines of action is to inform and educate patients about their disease to improve their care and reduce morbidities. We t
Autor:
Márcia Waddington-Cruz, Isabel Conceição, Teresa Coehlo, David H. Adams, Ole B. Suhr, Hartmut Schmidt, Juan Buades, Josep M. Campistol
Publikováno v:
Orphanet Journal of Rare Diseases
Background: Familial amyloidotic polyneuropathy (FAP) is a progressive and fatal, autosomal dominant disease caused by deposition of mutant and wild-type transthyretin (TTR). Patisiran is an investigational, systemically administered lipid nanopartic
Publikováno v:
Orphanet Journal of Rare Diseases
Background and objectives Familial amyloidotic polyneuropathy (FAP) is a fatal, autosomal dominant disease caused by abnormal tissue deposition of mutant and wild-type transthyretin (TTR) in peripheral nerves, gastrointestinal tract, and heart. Since